We worked with Dr. Carrie Heike and other Craniofacial Center researchers established a network that could overcome key barriers to studying CFM. Traditionally, medical centers have defined cases differently and followed different protocols on how to treat the disorder. The FACIAL team developed standardized definitions and protocols that will guide a multicenter study. By assembling the first-ever large cohort of patients with CFM, the network could significantly improve our understanding of the condition's causes and treatment outcomes.

We are working with Heike and Dr. Matthew Speltz on the CLOCK study, which aims to learn more about infants and young children with craniofacial microsomia (CFM). CLOCK looks at the association between facial asymmetry and neurodevelopmental outcomes (e.g., cognitive, motor and language skills), as well as hearing loss and neurodevelopmental and social communication outcomes. We want to identify children with CFM who may benefit from early intervention services and to ultimately help parents find appropriate services for children with this condition.

Phenotypic and Genomic Characterization of Microtia in the Andean Population

This study investigates the causes of microtia in South America's Andean region. This is a natural place to study the condition because it appears to be more prevalent there than elsewhere in the world, and because regional investigators have established the Latin American Collaborative Study of Congenital Malformations (ECLAMC), a study that collects information on thousands of patients with birth defects.

Working closely with collaborators in South America, Luquetti and her colleagues are using this database, as well as samples from individuals with microtia, to try and identify the condition's causes. The research team is using exome sequencing and other advanced tools to search for genetic mutations that contribute to the condition. They are also investigating whether environmental factors, such as dietary differences and the region's uniquely high altitude, play a role.

Microtia Classification: Refining the Phenotype

One challenge to understanding CFM is that there is no standardized system for identifying and classifying the condition's phenotype, or physical characteristics. To address this, a team led by Luquetti and Heike are using the American Journal of Medical Genetics ear terminology and classification to characterize and classify the severity of particular microtia cases. The study uses six different people to rate and characterize the severity of microtia in photographs of patients' ears.

The goal is to evaluate whether using these classifications can significantly improve collection and interpretation of microtia data. If this method is successful, it could provide a template for collecting data across multiple study sites, improving our ability to understand and assess microtia cases.

Seattle Children’s provides healthcare without regard to race, color, religion (creed), sex, gender identity or expression, sexual orientation, national origin (ancestry) or disability. Financial assistance for medically necessary services is based on family income and hospital resources and is provided to children under age 21 whose primary residence is in Washington, Alaska, Montana or Idaho.